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Peroneal muscular atrophy with pyramidal features.

A E Harding, P K Thomas

    Journal of Neurology, Neurosurgery, and Psychiatry
    |February 1, 1984
    PubMed
    Summary

    Hereditary motor and sensory neuropathy (HMSN) type V, a peroneal muscular atrophy with pyramidal features, presents in early adulthood with leg weakness. This slowly progressive disorder, typically autosomal dominant, causes mild to moderate disability.

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    Area of Science:

    • Neurology
    • Genetics
    • Clinical Medicine

    Background:

    • Describes hereditary motor and sensory neuropathy (HMSN) type V, characterized by peroneal muscular atrophy and pyramidal features.
    • Highlights the disorder's classification within the HMSN spectrum, previously termed type V by Dyck.

    Observation:

    • Presents 25 cases from 15 families with onset typically in the first two decades, manifesting as difficulty walking.
    • Clinical features include distal wasting and weakness (legs > arms), variable reflexes (normal/increased upper limb/knee, absent ankle), and often extensor plantar responses.
    • Approximately 30% of cases exhibit increased tone and proximal lower limb weakness.

    Findings:

    • Mean motor nerve conduction velocity is reduced compared to controls.
    • Sensory nerve action potentials show reduced amplitude or are absent in two-thirds of patients.
    • Autosomal dominant inheritance is observed in the majority of families.

    Implications:

    • HMSN type V is a slowly progressive neuropathy with a generally non-debilitating course.
    • Understanding its distinct clinical and electrophysiological profile aids in accurate diagnosis and genetic counseling.
    • Further research can elucidate specific genetic underpinnings and therapeutic targets for this HMSN subtype.

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